Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.108929199_108929380delCA2586969751EDAR,RANBP2c.175_356del
c.226_407del
c.319_500del
c.8370+156153_8370+156334del (n.8370+156153_8370+156334del)
2g.108929199C>ACA348115537EDAR,RANBP2c.355G>T (p.Gly119Cys)
c.406G>T (p.Gly136Cys)
c.499G>T (p.Gly167Cys)
c.8370+156153C>A (n.8370+156153C>A)
2g.108929199C>GCA348115538EDAR,RANBP2c.355G>C (p.Gly119Arg)
c.406G>C (p.Gly136Arg)
c.499G>C (p.Gly167Arg)
c.8370+156153C>G (n.8370+156153C>G)
2g.108929199C>TCA348115539EDAR,RANBP2c.355G>A (p.Gly119Ser)
c.406G>A (p.Gly136Ser)
c.499G>A (p.Gly167Ser)
c.8370+156153C>T (n.8370+156153C>T)
2g.108929200A=CA1278368508EDAR,RANBP2c.354T= (p.Pro118=)
c.405T= (p.Pro135=)
c.498T= (p.Pro166=)
c.8370+156154A= (n.8370+156154A=)
2g.108929200A>CCA428086792EDAR,RANBP2c.354T>G (p.Pro118=)
c.405T>G (p.Pro135=)
c.498T>G (p.Pro166=)
c.8370+156154A>C (n.8370+156154A>C)
2g.108929200A>GCA428086794EDAR,RANBP2c.354T>C (p.Pro118=)
c.405T>C (p.Pro135=)
c.498T>C (p.Pro166=)
c.8370+156154A>G (n.8370+156154A>G)
2g.108929200A>TCA428086795EDAR,RANBP2c.354T>A (p.Pro118=)
c.405T>A (p.Pro135=)
c.498T>A (p.Pro166=)
c.8370+156154A>T (n.8370+156154A>T)
 dbSNP
2g.108929201G>ACA348115540EDAR,RANBP2c.353C>T (p.Pro118Leu)
c.404C>T (p.Pro135Leu)
c.497C>T (p.Pro166Leu)
c.8370+156155G>A (n.8370+156155G>A)
2g.108929201G>CCA348115541EDAR,RANBP2c.353C>G (p.Pro118Arg)
c.404C>G (p.Pro135Arg)
c.497C>G (p.Pro166Arg)
c.8370+156155G>C (n.8370+156155G>C)
2g.108929201G>TCA348115542EDAR,RANBP2c.353C>A (p.Pro118His)
c.404C>A (p.Pro135His)
c.497C>A (p.Pro166His)
c.8370+156155G>T (n.8370+156155G>T)
2g.108929202G>ACA348115543EDAR,RANBP2c.352C>T (p.Pro118Ser)
c.403C>T (p.Pro135Ser)
c.496C>T (p.Pro166Ser)
c.8370+156156G>A (n.8370+156156G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.108929202G>CCA1825121EDAR,RANBP2c.352C>G (p.Pro118Ala)
c.403C>G (p.Pro135Ala)
c.496C>G (p.Pro166Ala)
c.8370+156156G>C (n.8370+156156G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929202G=CA1278368509EDAR,RANBP2c.352C= (p.Pro118=)
c.403C= (p.Pro135=)
c.496C= (p.Pro166=)
c.8370+156156G= (n.8370+156156G=)
2g.108929202G>TCA348115544EDAR,RANBP2c.352C>A (p.Pro118Thr)
c.403C>A (p.Pro135Thr)
c.496C>A (p.Pro166Thr)
c.8370+156156G>T (n.8370+156156G>T)
2g.108929203G>ACA428086797EDAR,RANBP2c.351C>T (p.Leu117=)
c.402C>T (p.Leu134=)
c.495C>T (p.Leu165=)
c.8370+156157G>A (n.8370+156157G>A)
2g.108929203G>CCA428086798EDAR,RANBP2c.351C>G (p.Leu117=)
c.402C>G (p.Leu134=)
c.495C>G (p.Leu165=)
c.8370+156157G>C (n.8370+156157G>C)
2g.108929203G>TCA428086799EDAR,RANBP2c.351C>A (p.Leu117=)
c.402C>A (p.Leu134=)
c.495C>A (p.Leu165=)
c.8370+156157G>T (n.8370+156157G>T)
2g.108929204A>CCA348115545EDAR,RANBP2c.350T>G (p.Leu117Arg)
c.401T>G (p.Leu134Arg)
c.494T>G (p.Leu165Arg)
c.8370+156158A>C (n.8370+156158A>C)
2g.108929204A>GCA348115546EDAR,RANBP2c.350T>C (p.Leu117Pro)
c.401T>C (p.Leu134Pro)
c.494T>C (p.Leu165Pro)
c.8370+156158A>G (n.8370+156158A>G)
2g.108929204A>TCA348115547EDAR,RANBP2c.350T>A (p.Leu117His)
c.401T>A (p.Leu134His)
c.494T>A (p.Leu165His)
c.8370+156158A>T (n.8370+156158A>T)
2g.108929205G>ACA348115550EDAR,RANBP2c.349C>T (p.Leu117Phe)
c.400C>T (p.Leu134Phe)
c.493C>T (p.Leu165Phe)
c.8370+156159G>A (n.8370+156159G>A)
2g.108929205G>CCA348115549EDAR,RANBP2c.349C>G (p.Leu117Val)
c.400C>G (p.Leu134Val)
c.493C>G (p.Leu165Val)
c.8370+156159G>C (n.8370+156159G>C)
2g.108929205G>TCA348115548EDAR,RANBP2c.349C>A (p.Leu117Ile)
c.400C>A (p.Leu134Ile)
c.493C>A (p.Leu165Ile)
c.8370+156159G>T (n.8370+156159G>T)
2g.108929206G>ACA428086802EDAR,RANBP2c.348C>T (p.Cys116=)
c.399C>T (p.Cys133=)
c.492C>T (p.Cys164=)
c.8370+156160G>A (n.8370+156160G>A)
2g.108929206G>CCA348115551EDAR,RANBP2c.348C>G (p.Cys116Trp)
c.399C>G (p.Cys133Trp)
c.492C>G (p.Cys164Trp)
c.8370+156160G>C (n.8370+156160G>C)
2g.108929206G=CA1278368510EDAR,RANBP2c.348C= (p.Cys116=)
c.399C= (p.Cys133=)
c.492C= (p.Cys164=)
c.8370+156160G= (n.8370+156160G=)
2g.108929206G>TCA348115552EDAR,RANBP2c.348C>A (p.Cys116Ter)
c.399C>A (p.Cys133Ter)
c.492C>A (p.Cys164Ter)
c.8370+156160G>T (n.8370+156160G>T)
 dbSNP gnomAD v4
2g.108929207C>ACA348115553EDAR,RANBP2c.347G>T (p.Cys116Phe)
c.398G>T (p.Cys133Phe)
c.491G>T (p.Cys164Phe)
c.8370+156161C>A (n.8370+156161C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.108929207C=CA1278368511EDAR,RANBP2c.347G= (p.Cys116=)
c.398G= (p.Cys133=)
c.491G= (p.Cys164=)
c.8370+156161C= (n.8370+156161C=)
2g.108929207C>GCA348115554EDAR,RANBP2c.347G>C (p.Cys116Ser)
c.398G>C (p.Cys133Ser)
c.491G>C (p.Cys164Ser)
c.8370+156161C>G (n.8370+156161C>G)
 gnomAD v4
2g.108929207C>TCA348115555EDAR,RANBP2c.347G>A (p.Cys116Tyr)
c.398G>A (p.Cys133Tyr)
c.491G>A (p.Cys164Tyr)
c.8370+156161C>T (n.8370+156161C>T)
 COSMIC COSMIC
2g.108929208A=CA1278368512EDAR,RANBP2c.346T= (p.Cys116=)
c.397T= (p.Cys133=)
c.490T= (p.Cys164=)
c.8370+156162A= (n.8370+156162A=)
2g.108929208A>CCA348115556EDAR,RANBP2c.346T>G (p.Cys116Gly)
c.397T>G (p.Cys133Gly)
c.490T>G (p.Cys164Gly)
c.8370+156162A>C (n.8370+156162A>C)
2g.108929208A>GCA54012141EDAR,RANBP2c.346T>C (p.Cys116Arg)
c.397T>C (p.Cys133Arg)
c.490T>C (p.Cys164Arg)
c.8370+156162A>G (n.8370+156162A>G)
 dbSNP gnomAD v4
2g.108929208A>TCA348115557EDAR,RANBP2c.346T>A (p.Cys116Ser)
c.397T>A (p.Cys133Ser)
c.490T>A (p.Cys164Ser)
c.8370+156162A>T (n.8370+156162A>T)
2g.108929209A>CCA428086803EDAR,RANBP2c.345T>G (p.Pro115=)
c.396T>G (p.Pro132=)
c.489T>G (p.Pro163=)
c.8370+156163A>C (n.8370+156163A>C)
2g.108929209A>GCA428086804EDAR,RANBP2c.345T>C (p.Pro115=)
c.396T>C (p.Pro132=)
c.489T>C (p.Pro163=)
c.8370+156163A>G (n.8370+156163A>G)
2g.108929209A>TCA428086805EDAR,RANBP2c.345T>A (p.Pro115=)
c.396T>A (p.Pro132=)
c.489T>A (p.Pro163=)
c.8370+156163A>T (n.8370+156163A>T)
2g.108929209_108929210delinsAGCA1278368513EDAR,RANBP2c.344_345delinsCT (p.Pro115=)
c.395_396delinsCT (p.Pro132=)
c.488_489delinsCT (p.Pro163=)
c.8370+156163_8370+156164delinsAG (n.8370+156163_8370+156164delinsAG)
2g.108929210G>ACA1825123EDAR,RANBP2c.344C>T (p.Pro115Leu)
c.395C>T (p.Pro132Leu)
c.488C>T (p.Pro163Leu)
c.8370+156164G>A (n.8370+156164G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929210G>CCA348115558EDAR,RANBP2c.344C>G (p.Pro115Arg)
c.395C>G (p.Pro132Arg)
c.488C>G (p.Pro163Arg)
c.8370+156164G>C (n.8370+156164G>C)
2g.108929210G=CA1278368514EDAR,RANBP2c.344C= (p.Pro115=)
c.395C= (p.Pro132=)
c.488C= (p.Pro163=)
c.8370+156164G= (n.8370+156164G=)
2g.108929210G>TCA348115559EDAR,RANBP2c.344C>A (p.Pro115His)
c.395C>A (p.Pro132His)
c.488C>A (p.Pro163His)
c.8370+156164G>T (n.8370+156164G>T)
2g.108929212delCA1825122EDAR,RANBP2c.344del (p.Pro115LeufsTer?)
c.395del (p.Pro132LeufsTer?)
c.488del (p.Pro163LeufsTer?)
c.8370+156166del (n.8370+156166del)
 dbSNP ExAC
2g.108929211G>ACA348115560EDAR,RANBP2c.343C>T (p.Pro115Ser)
c.394C>T (p.Pro132Ser)
c.487C>T (p.Pro163Ser)
c.8370+156165G>A (n.8370+156165G>A)
 dbSNP gnomAD v4
2g.108929211G>CCA1825124EDAR,RANBP2c.343C>G (p.Pro115Ala)
c.394C>G (p.Pro132Ala)
c.487C>G (p.Pro163Ala)
c.8370+156165G>C (n.8370+156165G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.108929211G=CA1278368515EDAR,RANBP2c.343C= (p.Pro115=)
c.394C= (p.Pro132=)
c.487C= (p.Pro163=)
c.8370+156165G= (n.8370+156165G=)
2g.108929211G>TCA348115561EDAR,RANBP2c.343C>A (p.Pro115Thr)
c.394C>A (p.Pro132Thr)
c.487C>A (p.Pro163Thr)
c.8370+156165G>T (n.8370+156165G>T)
2g.108929212G>ACA54012142EDAR,RANBP2c.342C>T (p.Gly114=)
c.393C>T (p.Gly131=)
c.486C>T (p.Gly162=)
c.8370+156166G>A (n.8370+156166G>A)
 dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched